Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome.

Abstract:

:Antenatal Bartter syndrome is a variant of inherited renal-tubular disorders associated with hypokalemic alkalosis. This disorder typically presents as a life-threatening condition beginning in utero, with marked fetal polyuria that leads to polyhydramnios and premature delivery. Another hallmark of this variant is a marked hypercalciuria and, as a secondary consequence, the development of nephrocalcinosis and osteopenia. We have analyzed 15 probands belonging to 13 families and have performed SSCP analysis of the coding sequence and the exon-intron boundaries of the NKCC2 gene; and we report 14 novel mutations in patients with antenatal Bartter syndrome, as well as the identification of three isoforms of human NKCC2 that arise from alternative splicing.

journal_name

Am J Hum Genet

authors

Vargas-Poussou R,Feldmann D,Vollmer M,Konrad M,Kelly L,van den Heuvel LP,Tebourbi L,Brandis M,Karolyi L,Hebert SC,Lemmink HH,Deschênes G,Hildebrandt F,Seyberth HW,Guay-Woodford LM,Knoers NV,Antignac C

doi

10.1086/301872

subject

Has Abstract

pub_date

1998-06-01 00:00:00

pages

1332-40

issue

6

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(07)62774-8

journal_volume

62

pub_type

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